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Table 2 The table above describes the findings of the laboratory investigations and imaging studies done for the patients

From: Bardet–Biedl syndrome: a case series

Laboratory investigations

Case 1

Case 2

Case 3

Case 4

CBC

Hb 6.4 g/dL (normochromic normocytic)

Hb 5.9 g/dL (normochromic normocytic)

Normal

Normal

RFT

BUN 114 mg/dL

Serum creatinine 6.2 mg/dL

BUN 140 mg/dL

Serum creatinine 4.3 mg/dL

Normal

Normal

RBS

180 mg/100 mL

210 mg/100 mL

388 mg/100 mL

110 mg/100 mL

HbA1C

5.9%

13%

14.5%

5.1%

TFT

Subclinical hypothyroidism

Normal

Normal

Normal

Serum electrolytes

Serum Na 110 (135–145) mmol/L

Serum Ca 7.3 (8–11) mg/dL

Serum PO4 5.5 (3.4–4.5) mg/dL

Serum Ca 7.1 (8–11) mg/dL

Serum PO4 6.1 (3.4–4.5) mg/dL

Serum K 2.4 mmol/L

Normal

Serum uric acid

13.3 (2.6–5.7) mg/dL

8 (2.6–5.7) mg/dL

Normal

Normal

PTH

454 (15–75) pg/mL

490 (15–75) pg/mL

Normal

Normal

Urine general

Normal

Normal

++++ Acetone

++++ Sugar

Normal

Lipid profile

High serum cholesterol

Normal

Normal

Normal

Hormonal profile

Hypogonadotropic hypogonadism

Low testosterone

Normal

Normal

Imaging

 Abdominal ultrasonography

Small size right kidney

Left kidney not detected

Enlarged liver (hemangioma)

Gall bladder stone

Infantile uterus

Bilateral small kidney size

Normal

Enlarged liver

 Echocardiography

Left ventricular hypertrophy (LVH)

Left ventricular hypertrophy (LVH)

Normal

Mild pulmonary HTN

  1. CBC: Complete Blood Count; Hb: Haemoglobin; RFT: Renal Function Test; BUN: Blood Urea Nitrogen; RBS: Random Blood Sugar; TFT: Thyroid Function Test; Serum Na: Serum Sodium; Serum Ca: Serum Calcium; Serum PO4: Serum Phosphate; Serum K: Serum Potassium; PTH: Parathyroid Hormone; LVH: Left Ventriular Hypertrophy; HTN: Hypertention